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Relevance to Autism

A study found significant changes in PDE4B expression in the superior frontal cortex and cerebellum of subjects with autism (Braun et al., 2007). Recently, a de novo synonymous variant in this gene was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2012).

Molecular Function

The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. The PDEs regulate the cellular concentrations of cyclic nucleotides and thereby play a role in signal transduction. This gene encodes a protein that specifically hydrolyzes cAMP. Altered activity of this protein has been associated with schizophrenia and bipolar affective disorder. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Expression of phosphodiesterase 4 is altered in the brains of subjects with autism.
ASD
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
De novo gene disruptions in children on the autistic spectrum.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
Recent Recommendation
A common molecular signature in ASD gene expression: following Root 66 to autism.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN312R001 
 synonymous_variant 
 c.1461G>A 
 p.Leu487= 
 De novo 
  
 Simplex 
 GEN312R002 
 stop_gained 
 c.1669G>T 
 p.Glu557Ter 
 Familial 
 Paternal 
 Multiplex 
 GEN312R003 
 missense_variant 
 c.158C>T 
 p.Pro53Leu 
 De novo 
  
  
 GEN312R004 
 missense_variant 
 c.1580C>A 
 p.Ala527Glu 
 De novo 
  
 Simplex 
 GEN312R005 
 missense_variant 
 c.2164A>G 
 p.Thr722Ala 
 De novo 
  
 Simplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN312C001 
 intron_variant 
 rs12129719 
 c.-70-54416G>A;c.-107-54416G>A 
  
 40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets) 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
1
Deletion-Duplication
 24
 
1
Deletion
 3
 
1
Deletion
 1
 
1
Deletion
 1
 
1
Duplication
 1
 

No Animal Model Data Available

 

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